Results 131 to 140 of about 851,546 (305)

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders

BMC Medical Genomics
Background Identification of genetic variations associated with early-onset high myopia (eoHM) provides a genetic basis for risk assessment and prevention of this disease.
Chunxiao Han, Shanshan Wu, Yang Yang, Xiangchun Yang, Haibo Li   +4 more
doaj   +1 more source

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +1 more source

A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

International Journal of Genomics
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disease characterized by clinical symptoms such as eczema, thrombocytopenia with small platelets, immune deficiency, prone to autoimmune diseases, and malignant tumors.
Lingyu Wang, Jie Zhang, Linna Lu, Juan Ren, Yaofang Zhang, Lidong Zhao, Wukang Shen, Xucheng Hu, Shuai Fang, Xiaomei Lu, Gang Wang, Linhua Yang   +11 more
doaj   +1 more source

Circulating tumor cell viability during and after radiotherapy mirrors treatment response in cancer patients

Molecular Oncology, EarlyView.
Radiotherapy (RT) response depends on the DNA repair capacity of tumor and host cells. We show that circulating tumor cell (CTC) counts and apoptosis rates before and after RT predict treatment response and outcome, which can be accessed via easily accessible liquid biopsy approaches. Created in BioRender. Wikman, H.
Yvonne Goy, Jana Löptien, Cornelia Coith, Afroditi Nanou, Katharina Hintelmann, Pinnschmidt Hans, Cordula Petersen, Klaus Pantel, Sabine Riethdorf, Kerstin Borgmann, Harriet Wikman   +10 more
wiley   +1 more source

A family case of a rare Xq28 duplication

Вавиловский журнал генетики и селекции
Genetic factors contribute to the etiology of intellectual disability in 25–50 % of cases. Chromosomal abnormalities, such as microdeletions and microduplications, are the most significant genetic causes. We examined a family where two boys, aged 8 and 7,
A. E. Kopytova, E. N. Tolmacheva, D. A. Emelina, O. S. Glotov, V. V. Miroshnikova, T. S. Usenko, O. Yu. Vasilyeva, E. D. Kasyanov, E. A. Fonova, I. V. Makarov, A. D. Lobanov, G. E. Mazo, S. N. Pchelina, I. N. Lebedev   +13 more
doaj   +1 more source

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source

Targeting TNBC: core–shell polycationic polyurea dendrimers with inherent anticancer activity

FEBS Open Bio, EarlyView.
Core–shell polycationic PURE dendrimers were tested in TNBC‐derived tumor models. Both formulations selectively targeted TNBC and effectively reduced tumor volume. PUREG4‐OEI48 suppressed tumor growth without detectable toxicity, whereas PUREG4‐OCEI24, despite showing efficacy, induced hepatic toxicity.
Adriana Cruz, Bruna Abreu, Cindy Mendes, Catarina Freitas‐Dias, Filipe Gonçalves, Fernanda Silva, José Ramalho, Saudade André, Vasco D. B. Bonifácio, Jacinta Serpa   +9 more
wiley   +1 more source

Advantage in Human Induced Pluripotent Stem Cells Research of X-Linked Genetic Diseases for Drug Screening

International Journal of Stem cell Research & Therapy, 2015
Human induced pluripotent stem cell (hiPSC) technology has widely been used for modeling of various genetic diseases. In the disease-modeling iPSC studies, it is necessary to generate hiPSC lines from peripheral tissues of multiple patients and of multiple age- and sex-matched control individuals in order to minimize the differences in genetic ...
openaire   +1 more source

Engineering tandem VHHs to target different epitopes to enhance antibody‐dependent cell‐mediated cytotoxicity

FEBS Open Bio, EarlyView.
Tandem VHH targeting distinct EGFR epitopes were engineered into a monovalent bispecific antibody (7D12‐EGA1‐Fc) with more potent ADCC without increasing affinity to EGFR. Structural modeling of 7D12‐EGA1‐Fc showed cross‐linking of separate EGFR domains to enhance CD16a engagement on NK cells.
Yuqiang Xu, Hao Jiang, Limin Chen, Fulai Zhou, Ying Jin, Mark L. Chiu   +5 more
wiley   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source